A Mother's Loss Inspires Research Study that Identifies Risk Factors of Death and Heart Transplant in Children with Heart Disorder

TENAFLY, N.J., Sept. 3, 2013 /PRNewswire-USNewswire/ -- The Children's Cardiomyopathy Foundation (CCF), National Heart, Lung, and Blood Institute (NHLBI), and U.S. and Canadian medical centers have collaborated on a national study with findings that can save the lives of infants and children diagnosed with hypertrophic cardiomyopathy (HCM) – a chronic heart condition affecting the heart's muscle and pumping function. This study represents more than a decade-long search for answers for CCF's Founding Executive Director, Lisa Yue, after losing her two young sons to HCM.

The Lancet, a leading peer-reviewed medical journal, published the results of this North American study, "Risk Stratification at diagnosis for children with hypertrophic cardiomyopathy: an analysis of data from the Pediatric Cardiomyopathy Registry," which outlines risk factors that cardiologists can use to determine which HCM-diagnosed children are at greatest risk of death and who should be evaluated for earlier heart transplant.

"Had this study existed 12 years ago when my sons Bryan and Kevin were diagnosed, their treatment probably would have been different, and they would still be here with me today," states Ms. Yue, who founded CCF to generate more awareness of pediatric cardiomyopathy. "This published study is a milestone for CCF and will significantly improve outcomes for children with HCM."

Principal investigator Steven E. Lipshultz, M.D., the Batchelor professor of pediatrics and director of the Batchelor Children's Research Institute and James D. Wilkinson, M.D., M.P.H., director of the Pediatric Cardiomyopathy Registry Administrative Coordinating Center at the University of Miami Miller School of Medicine, were inspired by Ms. Yue's story and advocacy efforts when she sought Dr. Lipshultz' help to understand the reasons for her sons' disease severity. In this study, Dr. Lipshultz led a North American team of pediatric researchers to develop guidelines for risk stratification and identify factors that predict poor outcomes in children with HCM.

For physicians, predicting the outcome of children with HCM is challenging because of the disease's variable presentation. By analyzing the cases of more than 1,000 children with HCM from 98 centers enrolled in the North American Pediatric Cardiomyopathy Registry (PCMR), Dr. Lipshultz, the PCMR principal investigator, and researchers were able to break down the disease into patient subgroups by clinical characteristics and identify risk factors that predict the likelihood of death or heart transplant. Specifically, the study found the worst prognosis for children in the following subgroups: HCM diagnosed at less than 1 year of age or those with metabolic disorders, malformation syndromes or a mixed form of HCM in combination with dilated or restrictive cardiomyopathy. The risk of death or heart transplant markedly increased when two or more risk factors – such as decreased weight, congestive heart failure and abnormal echocardiograms – were present. The study suggests that these higher risk patients should be followed closely and be evaluated for early heart transplantation.

The study's research team believes that these findings will have an immediate impact on patient care. "Before this study, nobody knew which factors were more or less important in predicting dismal outcomes," says Dr. Lipshultz. "Based on our experience with adults, we do not think of HCM as a cause for heart transplant. Yet for a select group of high-risk children with HCM, transplant is key for survival."

Dr. Lipshultz confirms that many of the characteristics Ms. Yue's sons, Bryan and Kevin, had were risks for failing medical management and needing a heart transplant. "Had their cardiologists had access to this study, they probably would have taken a different course of action," says Dr. Lipshultz. "Our goal is to prevent other children like Bryan or Kevin from dying."

Dr. Lipshultz and Ms. Yue continue their long-standing partnership focused on improving the diagnosis, treatment and quality of life for children with all forms of cardiomyopathy. Over the years, this has included working together to fund PCMR studies, establish a pediatric cardiomyopathy tissue/DNA repository, plan scientific conferences and work with the NHLBI to increase research focus on the disease. More than 148 medical publications and presentations have resulted from CCF-funded research on pediatric cardiomyopathy, including 21 publications and presentations from collaborations with the NHLBI and North American PCMR.

"The results of this study highlight the benefits of collaborative research on a rare disease like pediatric cardiomyopathy," says Gail Pearson, M.D., Sc.D., director of the Adult and Pediatric Cardiac Research Program in the NHLBI's Division of Cardiovascular Sciences. "This study is a good example of public-private collaboration to address one of the most serious and complex heart conditions that affects children. Where we don't have good treatment options, such as with hypertrophic cardiomyopathy, determining risk level takes on more importance."

Ms. Yue adds, "I am glad CCF partnered with the NHLBI and PCMR to support this multi-center study. I look forward to hearing about the successful outcomes of children who will benefit from this new medical knowledge."

The study was supported by The National Heart, Lung, and Blood Institute grant HL53392 and by the Children's Cardiomyopathy Foundation.

About the Children's Cardiomyopathy Foundation: The Children's Cardiomyopathy Foundation (CCF) is a national non-profit organization dedicated to finding causes and cures for pediatric cardiomyopathy. CCF started in 2002 with one family's determination to call attention to this poorly understood heart disease and to take action on the lack of medical progress and public awareness. Since then, CCF has committed more than $2.1 million to research and treatment initiatives, and grown into a global community of families, physicians and scientists focused on improving diagnosis, treatment and quality of life for children with cardiomyopathy.